1p36 Deletion Syndrome and Left Ventricular Non-compaction Cardiomyopathy—Two Cases Report

Subin Jang, Allison Taber, Michael G. Bateman, Marie E. Steiner, Rebecca K. Ameduri, Massimo Griselli

Research output: Contribution to journalArticlepeer-review

Abstract

1p36 deletion is the most common terminal deletion syndrome in humans. Herein, we report two cases, a 5-month-old female and a 14.5-year-old female, both with 1p36 deletion and left ventricular non-compaction cardiomyopathy. They presented with severely depressed left ventricle function and underwent heart transplantation with excellent outcomes. Given the incidence of heart defects and cardiomyopathy in 1p36 deletion syndrome, it should be recommended that children with this genetic condition have screening for cardiac disease. These cases add to the current literature by demonstrating the potential therapeutic options for non-compaction in 1p36 deletion syndrome and showed the favorable outcomes.

Original languageEnglish (US)
Article number653633
JournalFrontiers in Pediatrics
Volume9
DOIs
StatePublished - Jun 7 2021

Bibliographical note

Publisher Copyright:
© Copyright © 2021 Jang, Taber, Bateman, Steiner, Ameduri and Griselli.

Keywords

  • 1p36 deletion syndrome
  • LVNC
  • cardiomyopathy
  • case report
  • non-compaction

PubMed: MeSH publication types

  • Case Reports

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